Genomic divergence and brain evolution: How regulatory DNA influences development of the cerebral cortex.

摘要: The cerebral cortex controls our most distinguishing higher cognitive functions. Human-specific gene expression differences are abundant in the cortex, yet we have only begun to understand how these variations impact brain function. This review discusses current evidence linking non-coding regulatory DNA changes, including enhancers, with neocortical evolution. Functional interrogation using animal models reveals converging roles for genome key aspects of cortical development progenitor cell cycle and neuronal signaling. New technologies, iPS cells organoids, offer potential alternatives modeling evolutionary modifications a relevant species context. Several diseases rooted uniquely manifest humans compared other primates, thus highlighting importance understanding human differences. Future studies loci, those implicated disease, will collectively help elucidate cellular genetic mechanisms underlying traits.